Lipid storage myopathy due to FLAD1 deficiency

Definition:

Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD) was recently reported as a novel riboflavin metabolism disorder resembling multiple acyl-CoA dehydrogenase deficiency (MADD). MADD, also known as glutaric acidemia type II [DS:H00178], is a mitochondrial fatty acid oxidation disorder characterized by combined respiratory-chain deficiency and a neuromuscular phenotype.

References:

[1]. Kai Muru, et al. FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. Mol Genet Genomic Med. 2019 Sep;7(9):e915. [Content Brief]

[2]. Rikke K J Olsen, et al. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. [Content Brief]

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